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Congenital nemaline myopathy. I. Defective organization of α‐actinin is restricted to muscle
Author(s) -
Jennekens Frans G. I.,
Roord John J.,
Veldman Henk,
Willemse Jacobus,
Jockusch Brigitte M.
Publication year - 1983
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880060111
Subject(s) - nemaline myopathy , congenital myopathy , actinin , actin , myopathy , skeletal muscle , pathology , muscle hypotonia , anatomy , biology , medicine , muscle biopsy , biopsy , microbiology and biotechnology , cytoskeleton , genetics , cell , hypotonia
This investigation was undertaken to find out whether the structural and biochemical changes seen in skeletal muscles in congenital nemaline myopathy (CNM) occurred also in nonmuscle cells. It was confirmed that nemaline bodies contain α‐actinin. The distribution of actin and α‐actinin in the examined nonmuscle cells was considered normal. The motility of the leucocytes and the fibroblasts was indistinguishable from that of those in normal controls. Slight changes in the peripheral nerve fibers of one patient were found, but these were not seen in another patient. The results indicate that congenital nemaline myopathy is not a generalized disorder but is restricted to skeletal muscle.